A study on fast calling variants from next-generation sequencing data using decision tree

The rapid development of next-generation sequencing (NGS) technology has continuously been refreshing the throughput of sequencing data. However, due to the lack of a smart tool that is both fast and accurate, the analysis task for NGS data, especially those with low-coverage, remains challenging.

We proposed a decision-tree based variant calling algorithm. Experiments on a set of real data indicate that our algorithm achieves high accuracy and sensitivity for SNVs and indels and shows good adaptability on low-coverage data. In particular, our algorithm is obviously faster than 3 widely used tools in our experiments.

We implemented our algorithm in a software named Fuwa and applied it together with 4 well-known variant callers, i.e., Platypus, GATK-UnifiedGenotyper, GATK-HaplotypeCaller and SAMtools, to three sequencing data sets of a well-studied sample NA12878, which were produced by whole-genome, whole-exome and low-coverage whole-genome sequencing technology respectively. We also conducted additional experiments on the WGS data of 4 newly released samples that have not been used to populate dbSNP.